Canonical Allele Identifier: CA411773395

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42128267-C-A
• MyVariant Identifiers: chr22:g.42524269C>A (hg19) ; chr22:g.42128267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128267C>A , CM000684.2:g.42128267C>A	GRCh38
NC_000022.10:g.42524269C>A , CM000684.1:g.42524269C>A	GRCh37
NC_000022.9:g.40854213C>A	NCBI36
NG_008376.3:g.6725G>T
NG_008376.4:g.7544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.597G>T	ENSP00000353241.6:p.Gln199His
ENST00000645361.2:c.750G>T MANE Select	ENSP00000496150.1:p.Gln250His
ENST00000359033.4:c.597G>T	ENSP00000351927.4:p.Gln199His
ENST00000360124.9:c.417G>T	ENSP00000353241.5:p.Gln139His
ENST00000360608.9:c.750G>T	ENSP00000353820.5:p.Gln250His
ENST00000389970.7:c.684G>T	ENSP00000374620.4:p.Gln228His
ENST00000488442.1:n.1474G>T
NM_000106.5:c.750G>T	NP_000097.3:p.Gln250His
NM_001025161.2:c.597G>T	NP_001020332.2:p.Gln199His
XM_011529966.1:c.750G>T	XP_011528268.1:p.Gln250His
XM_011529967.1:c.750G>T	XP_011528269.1:p.Gln250His
XM_011529968.1:c.750G>T	XP_011528270.1:p.Gln250His
XM_011529969.1:c.606G>T	XP_011528271.1:p.Gln202His
XM_011529970.1:c.597G>T	XP_011528272.1:p.Gln199His
XM_011529971.1:c.606G>T	XP_011528273.1:p.Gln202His
XM_011529972.1:c.750G>T	XP_011528274.1:p.Gln250His
NM_000106.6:c.750G>T MANE Select	NP_000097.3:p.Gln250His
NM_001025161.3:c.597G>T	NP_001020332.2:p.Gln199His